Aliases for RBFOX1 Gene
Aliases for RBFOX1 Gene
- RNA Binding Fox-1 Homolog 1 2 3 5
- RNA Binding Protein, Fox-1 Homolog 1 2 3
- Hexaribonucleotide-Binding Protein 1 3 4
- Ataxin 2-Binding Protein 1 2 3
- Fox-1 Homolog A 3 4
- HRNBP1 3 4
- A2BP1 3 4
- FOX1 3 4
- Hexaribonucleotide Binding Protein 1 Isoform Alpha 3
- RNA Binding Protein, Fox-1 Homolog (C. Elegans) 1 2
External Ids for RBFOX1 Gene
- HGNC: 18222
- Entrez Gene: 54715
- Ensembl: ENSG00000078328
- OMIM: 605104
- UniProtKB: Q9NWB1
Previous GeneCards Identifiers for RBFOX1 Gene
- GC16P006033
Summaries for RBFOX1 Gene
-
The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
GeneCards Summary for RBFOX1 Gene
RBFOX1 (RNA Binding Fox-1 Homolog 1) is a Protein Coding gene. Diseases associated with RBFOX1 include Developmental Coordination Disorder and Spinocerebellar Ataxia 2. Among its related pathways are MECP2 and Associated Rett Syndrome. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is RBFOX2.
UniProtKB/Swiss-Prot for RBFOX1 Gene
-
RNA-binding protein that regulates alternative splicing events by binding to 5-UGCAUGU-3 elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis.
Additional gene information for RBFOX1 Gene
- Monarch Initiative
- Search for RBFOX1 at DataMed
- Search for RBFOX1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBFOX1 Gene
Genomics for RBFOX1 Gene
GeneHancer (GH) Regulatory Elements for RBFOX1 Gene
Promoters and enhancers for RBFOX1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH16I006019 | Promoter | 0.7 | EPDnew | 550 | +779.3 | 779280 | 0.1 | MXI1 POLR2A EZH2 | RBFOX1 GC16P006027 GC16M005993 | |
| GH16I005239 | Enhancer | 0.6 | Ensembl | 550.8 | +0.2 | 215 | 1.9 | SMARCA5 CTCF MXI1 RNF2 RB1 REST RAD21 ZNF335 ZNF143 ZBTB26 | RBFOX1 GC16P005246 | |
| GH16I006231 | Enhancer | 0.2 | FANTOM5 | 12.3 | +991.9 | 991899 | 0.4 | RBFOX1 GC16M006203 GC16P006263 | ||
| GH16I006055 | Enhancer | 0.2 | FANTOM5 | 8.5 | +816.2 | 816188 | 0.4 | ENSG00000257180 RBFOX1 ENSG00000280000 | ||
| GH16I006020 | Enhancer | 0.2 | FANTOM5 | 6 | +780.9 | 780949 | 0.1 | RBFOX1 GC16P006027 GC16M005993 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around RBFOX1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for RBFOX1 Gene
Genomic Locations for RBFOX1 Gene
- chr16:5,239,782-7,713,340
- (GRCh38/hg38)
- Size:
- 2,473,559 bases
- Orientation:
- Plus strand
- chr16:6,069,095-7,763,340
- (GRCh37/hg19)
Genomic View for RBFOX1 Gene
Genes around RBFOX1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p13.3 by Ensembl
- 16p13.3 by Entrez Gene
- 16p13.3 by HGNC
RBFOX1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RBFOX1 Gene
Proteins for RBFOX1 Gene
-
Protein details for RBFOX1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NWB1-RFOX1_HUMAN
- Recommended name:
- RNA binding protein fox-1 homolog 1
- Protein Accession:
- Q9NWB1
- Q7Z7I7
- Q8TAE3
- Q8TAF2
- Q8WYB2
- Q9NS20
Protein attributes for RBFOX1 Gene
- Size:
- 397 amino acids
- Molecular mass:
- 42784 Da
- Quaternary structure:
-
- Binds to the C-terminus of ATXN2.
- SequenceCaution:
-
- Sequence=AAF78291.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for RBFOX1 Gene
Post-translational modifications for RBFOX1 Gene
No Post-translational modifications
Other Protein References for RBFOX1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001135805.1
- NP_001135806.1
- NP_001295046.1
- NP_061193.2
- NP_665898.1
- NP_665899.1
- NP_665900.1
- XP_005255443.1
- XP_005255444.1
- XP_005255445.1
- XP_005255447.1
- XP_005255448.1
- XP_005255451.1
- XP_011520848.1
- XP_011520849.1
- XP_011520850.1
- XP_016878807.1
- XP_016878808.1
- XP_016878809.1
- XP_016878810.1
- XP_016878811.1
- XP_016878812.1
- XP_016878813.1
- XP_016878814.1
- XP_016878815.1
- XP_016878816.1
- XP_016878817.1
- XP_016878818.1
- XP_016878819.1
- XP_016878820.1
- XP_016878821.1
- XP_016878822.1
- XP_016878823.1
- XP_016878824.1
- XP_016878825.1
- XP_016878826.1
- XP_016878827.1
- XP_016878828.1
- XP_016878829.1
- XP_016878830.1
- XP_016878831.1
- XP_016878832.1
Antibody Products
- Novus Biologicals Antibodies for RBFOX1
-
Abcam antibodies for RBFOX1
- Invitrogen Antibodies for RBFOX1
- GeneTex RBFOX1 antibody for RBFOX1
-
Santa Cruz Biotechnology (SCBT) Antibodies for RBFOX1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for RBFOX1
- Origene Custom Protein Services for RBFOX1
- Search GeneTex for Proteins for RBFOX1
Assay Products
- antibodies-online: Search results for 3 available A2BP1 Elisa Kits ranked by validation data
- Compare Top A2BP1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for RBFOX1 Gene
Domains & Families for RBFOX1 Gene
Gene Families for RBFOX1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for RBFOX1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for RBFOX1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for RBFOX1 Gene
Function for RBFOX1 Gene
Molecular function for RBFOX1 Gene
- UniProtKB/Swiss-Prot Function:
- RNA-binding protein that regulates alternative splicing events by binding to 5-UGCAUGU-3 elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis.
Phenotypes From GWAS Catalog for RBFOX1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | IEA,NAS | 10814712 |
| GO:0003729 | mRNA binding | IBA | -- |
| GO:0005515 | protein binding | IPI | 16713569 |
| GO:0008022 | protein C-terminus binding | IPI | 10814712 |
Phenotypes for RBFOX1 Gene
- MGI mutant phenotypes for RBFOX1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RBFOX1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for RBFOX1
-
- Search ViGene Biosciences for RBFOX1
CRISPR Products
-
OriGene CRISPR knockouts for RBFOX1
- genomics-online: gRNA clones - Search results for available A2BP1 gene related products
- Applied Biological Materials CRISPR for RBFOX1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RBFOX1
- GenScript: Design CRISPR guide RNA sequences for RBFOX1
miRNA for RBFOX1 Gene
- miRTarBase miRNAs that target RBFOX1
-
- hsa-mir-30a-5p (MIRT028610)
- hsa-let-7b-5p (MIRT032440)
- hsa-mir-3157-5p (MIRT654397)
- hsa-mir-153-5p (MIRT654399)
- hsa-mir-935 (MIRT654400)
- hsa-mir-4691-3p (MIRT654401)
- hsa-mir-1305 (MIRT666717)
- hsa-mir-6809-3p (MIRT666718)
- hsa-mir-6833-3p (MIRT666719)
- hsa-mir-4768-5p (MIRT666720)
- hsa-mir-498 (MIRT666721)
- hsa-mir-4753-3p (MIRT666722)
- hsa-mir-627-3p (MIRT666723)
- hsa-mir-6832-3p (MIRT666724)
- hsa-mir-562 (MIRT666725)
miRNA Products
- Search ViGene Biosciences for RBFOX1
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for RBFOX1
- Browse OriGene Inhibitory RNA Products For RBFOX1
- genomics-online: shRNA clones - Search results for available A2BP1 gene related products
Clone Products
-
OriGene ORF clones in human for RBFOX1
- RC226569
- RG227923
- RC227923L2
- RC227923L1
- RC227923
- RC217020L2V
- RC217020L1V
- RC213933L2V
- RC213933L1V
- RC216967L2V
- RC216967L1V
- RC217960L2V
- RC217960L1V
- RC226569L2V
- RC226569L1V
- RC227923L2V
- RC227923L1V
- RG217020
- RC217020L2
- RC217020L1
- RC217020
- RG213933
- RC213933L2
- RC213933L1
- RC213933
- RG216967
- RC216967L2
- RC216967L1
- RC216967
- RG217960
- RC217960L2
- RC217960L1
- RC217960
- RG226569
- RC226569L2
- RC226569L1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for RBFOX1 in any vector
- NM_145891.2
- XM_011522547.1
- XM_011522544.1
- NM_018723.3
- XM_005255381.2
- XM_011522545.1
- XM_005255386.2
- XM_005255390.2
- NM_145892.2
- XM_005255393.2
- XM_011522548.1
- XM_005255380.2
- NM_001308117.1
- XM_005255383.3
- XM_005255385.3
- XM_005255388.3
- NM_001142333.1
- XM_011522546.1
- NM_145893.2
- XM_005255394.3
- XM_005255379.2
- NM_001142334.1
- XM_005255382.2
- XM_005255384.2
- XM_005255387.2
- XM_005255391.2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for RBFOX1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RBFOX1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for RBFOX1
- genomics-online: cdna clones - Search results for available A2BP1 gene related products
- orf clones - Search results for available A2BP1 gene related products
- Applied Biological Materials Clones for RBFOX1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for RBFOX1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RBFOX1 Gene
Localization for RBFOX1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RBFOX1 Gene
- Nucleus. Cytoplasm.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| golgi apparatus | 5 |
| cytosol | 3 |
| lysosome | 2 |
- Cytosol (2)
- Golgi apparatus (2)
- Nucleus (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IBA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 10814712 |
| GO:0005802 | trans-Golgi network | IDA | 10814712 |
Pathways & Interactions for RBFOX1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | MECP2 and Associated Rett Syndrome | ||
Pathways by source for RBFOX1 Gene
1 BioSystems pathway for RBFOX1 Gene
Interacting Proteins for RBFOX1 Gene
Selected Interacting proteins:
Q9NWB1-RFOX1_HUMAN
ENSP00000309117
for RBFOX1 Gene via
IID
UniProtKB
STRING
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | IBA | -- |
| GO:0006397 | mRNA processing | IEA | -- |
| GO:0007399 | nervous system development | IBA | -- |
| GO:0008380 | RNA splicing | IEA | -- |
| GO:0043484 | regulation of RNA splicing | IEA | -- |
No data available for SIGNOR curated interactions for RBFOX1 Gene
Drugs & Compounds for RBFOX1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| antineoplastic agents | Pharma | 0 |
Transcripts for RBFOX1 Gene
mRNA/cDNA for RBFOX1 Gene
- (42) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (98) Selected AceView cDNA sequences:
- (24) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for RBFOX1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for RBFOX1
- genomics-online: gRNA clones - Search results for available A2BP1 gene related products
- Applied Biological Materials CRISPR for RBFOX1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RBFOX1
- GenScript: Design CRISPR guide RNA sequences for RBFOX1
miRNA Products
- Search ViGene Biosciences for RBFOX1
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for RBFOX1
- Browse OriGene Inhibitory RNA Products For RBFOX1
- genomics-online: shRNA clones - Search results for available A2BP1 gene related products
Clone Products
-
OriGene ORF clones in human for RBFOX1
- RC226569
- RG227923
- RC227923L2
- RC227923L1
- RC227923
- RC217020L2V
- RC217020L1V
- RC213933L2V
- RC213933L1V
- RC216967L2V
- RC216967L1V
- RC217960L2V
- RC217960L1V
- RC226569L2V
- RC226569L1V
- RC227923L2V
- RC227923L1V
- RG217020
- RC217020L2
- RC217020L1
- RC217020
- RG213933
- RC213933L2
- RC213933L1
- RC213933
- RG216967
- RC216967L2
- RC216967L1
- RC216967
- RG217960
- RC217960L2
- RC217960L1
- RC217960
- RG226569
- RC226569L2
- RC226569L1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for RBFOX1 in any vector
- NM_145891.2
- XM_011522547.1
- XM_011522544.1
- NM_018723.3
- XM_005255381.2
- XM_011522545.1
- XM_005255386.2
- XM_005255390.2
- NM_145892.2
- XM_005255393.2
- XM_011522548.1
- XM_005255380.2
- NM_001308117.1
- XM_005255383.3
- XM_005255385.3
- XM_005255388.3
- NM_001142333.1
- XM_011522546.1
- NM_145893.2
- XM_005255394.3
- XM_005255379.2
- NM_001142334.1
- XM_005255382.2
- XM_005255384.2
- XM_005255387.2
- XM_005255391.2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for RBFOX1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RBFOX1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for RBFOX1
- genomics-online: cdna clones - Search results for available A2BP1 gene related products
- orf clones - Search results for available A2BP1 gene related products
- Applied Biological Materials Clones for RBFOX1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | · | 15c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||||||||||
| SP5: | - | - | - | ||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||
| SP7: | - | - | - |
Expression for RBFOX1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
- Hypothalamus
- Medulla Oblongata
- Cerebral Cortex
- Neural Tube (Nervous System)
-
Eye (Sensory Organs)
- GABAergic Amacrine Cells Inner Nuclear Layer
- Retina
-
Endothelium (Cardiovascular System)
- Mature Endothelial Cells Blood Brain Barrier
- Endothelial Cells Blood Brain Barrier
- Epiblast (Early Embryonic Tissues)
-
Neurons
- GABAergic Amacrine Cells Inner Nuclear Layer
mRNA differential expression in normal tissues according to GTEx for RBFOX1 Gene
This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.5), Muscle - Skeletal (x5.5), Brain - Nucleus accumbens (basal ganglia) (x5.2), Brain - Putamen (basal ganglia) (x5.2), Brain - Caudate (basal ganglia) (x4.6), Brain - Cortex (x4.4), and Brain - Anterior cingulate cortex (BA24) (x4.4).
This gene is overexpressed in Bone (43.0), Heart (15.8), and Fetal Brain (8.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RBFOX1 Gene
NURSA nuclear receptor signaling pathways regulating expression of RBFOX1 Gene:
RBFOX1SOURCE GeneReport for Unigene cluster for RBFOX1 Gene:
Hs.459842mRNA Expression by UniProt/SwissProt for RBFOX1 Gene:
Q9NWB1-RFOX1_HUMAN
Tissue specificity:
Predominantly expressed in muscle and brain.
Evidence on tissue expression from TISSUES for RBFOX1 Gene
- Nervous system(4.5)
- Muscle(2.4)
Primer Products
-
OriGene qPCR primer pairs for RBFOX1
-
OriGene qPCR primer pairs and template standards for RBFOX1
- genomics-online: primer clones - Search results for available A2BP1 gene related products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RBFOX1 Gene
Orthologs for RBFOX1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | RBFOX1 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Rbfox1 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Rbfox1 33 |
|
||
| chimpanzee (Pan troglodytes) |
Mammalia | RBFOX1 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RBFOX1 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | RBFOX1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RBFOX1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | RBFOX1 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | RBFOX1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | rbfox1 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rbfox1 33 34 |
|
||
| Dr.11261 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | A2bp1 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | fox-1 34 |
|
ManyToMany | |
| asd-1 34 |
|
ManyToMany | |||
| spn-4 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.3750 34 |
|
OneToMany | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.1728 33 |
|
- Species where no ortholog for RBFOX1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for RBFOX1 Gene
(10) SIMAP similar genes for RBFOX1 Gene using alignment to 10 proteins:
Variants for RBFOX1 Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1060504699 | likely-benign, Idiopathic generalized epilepsy | 7,653,810(+) | CG/TT | intron_variant | |
| rs1060504700 | likely-benign, Idiopathic generalized epilepsy | 7,653,915(+) | G/A | coding_sequence_variant, synonymous_variant | |
| rs112339093 | benign, Idiopathic generalized epilepsy | 7,653,811(+) | G/A/T | intron_variant | |
| rs113298071 | benign, Idiopathic generalized epilepsy | 7,518,256(+) | C/A/G | coding_sequence_variant, missense_variant | |
| rs113881725 | benign, Idiopathic generalized epilepsy | 7,518,399(+) | C/G/T | intron_variant |
Residual Variation Intolerance Score:
5.64% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.64;
31.51% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RBFOX1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RBFOX1 Gene
Disorders for RBFOX1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| developmental coordination disorder |
|
|
| spinocerebellar ataxia 2 |
|
|
| sarcocystosis |
|
|
| conduct disorder |
|
|
| refractive error |
|
|
Search RBFOX1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RBFOX1
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for RBFOX1 Gene
Publications for RBFOX1 Gene
- A novel protein with RNA-binding motifs interacts with ataxin-2. (PMID: 10814712) Shibata H … Pulst SM (Human molecular genetics 2000) 2 3 4 22 58
- Genome-wide association study identifies susceptibility loci for dengue shock syndrome at MICB and PLCE1. (PMID: 22001756) Khor CC … Simmons CP (Nature genetics 2011) 3 44 58
- Genomewide association study of movement-related adverse antipsychotic effects. (PMID: 19875103) Aberg K … van den Oord EJ (Biological psychiatry 2010) 3 44 58
- A2BP1 as a novel susceptible gene for primary biliary cirrhosis in Japanese patients. (PMID: 20153395) Joshita S … Shinshu PBC Study Group (Human immunology 2010) 3 22 58
- A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium. (PMID: 19508968) Zhai G … Spector TD (Journal of medical genetics 2009) 3 22 58
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Sources for RBFOX1 Gene
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